Martin K, Nathwani S, Bunyan R
Department of Oral and Maxillofacial Surgery, Luton and Dunstable University Hospital, Lewsey Road, Luton, LU4 0DZ, United Kingdom.
J Oral Biol Craniofac Res. 2017 May-Aug;7(2):134-136. doi: 10.1016/j.jobcr.2017.04.007. Epub 2017 May 6.
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans. This novel finding can aid the clinician in the management of patients with Craniometaphyseal Dysplasia, and complications that can arise in dentoalveolar surgery.
颅骨骨干发育异常(CMD)是一种硬化性骨发育异常,其特征为颅面骨和长骨骨肥厚,导致畸形和颅神经麻痹。我们报告一例63岁患有颅骨骨干发育异常女性的治疗情况。本报告描述了牙根骨质增生这一额外的临床表现,尽管在其他硬化性骨发育异常中已得到充分认识,但在颅骨骨干发育异常的文献中尚未见报道。我们讨论了已有的小鼠体内研究,这些研究将颅骨骨干发育异常中发现的基因突变与牙根骨质增生联系起来,以及本报告如何描述人类的相同表现。这一新发现有助于临床医生管理颅骨骨干发育异常患者以及牙槽外科手术中可能出现的并发症。